Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter
Autoimmune lymphoproliferative syndrome (ALPS) is a disease characterized by dysfunction of the T lymphocyte apoptotic pathways, mostly due to dysfunctional FAS mediated signaling. However few cases can also occur independent of FAS pathway alteration. ALPS is characterized by various immuno-hemat...
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Mattioli1885
2024-02-01
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Series: | Mediterranean Journal of Hematology and Infectious Diseases |
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Online Access: | https://www.mjhid.org/mjhid/article/view/5571 |
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author | Amiya Nayak Pratyusha Gudapati Swapnil Tripathi Jasmita Dass Mukul Aggarwal Pradeep Kumar |
author_facet | Amiya Nayak Pratyusha Gudapati Swapnil Tripathi Jasmita Dass Mukul Aggarwal Pradeep Kumar |
author_sort | Amiya Nayak |
collection | DOAJ |
description |
Autoimmune lymphoproliferative syndrome (ALPS) is a disease characterized by dysfunction of the T lymphocyte apoptotic pathways, mostly due to dysfunctional FAS mediated signaling. However few cases can also occur independent of FAS pathway alteration. ALPS is characterized by various immuno-hematological manifestations. Monogenic lupus is an evolving entity, which describes the etiologic role of single gene modulation in systemic lupus erythematosus. In this manuscript, we describe a case of probable ALPS with monogenic lupus caused by a novel mutation in the KRAS gene.
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first_indexed | 2024-03-07T13:57:49Z |
format | Article |
id | doaj.art-185709511c1a4ecdbbd4f5b11e61ef1d |
institution | Directory Open Access Journal |
issn | 2035-3006 |
language | English |
last_indexed | 2024-04-24T08:55:06Z |
publishDate | 2024-02-01 |
publisher | Mattioli1885 |
record_format | Article |
series | Mediterranean Journal of Hematology and Infectious Diseases |
spelling | doaj.art-185709511c1a4ecdbbd4f5b11e61ef1d2024-04-16T07:59:25ZengMattioli1885Mediterranean Journal of Hematology and Infectious Diseases2035-30062024-02-0116110.4084/MJHID.2024.033Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter Amiya Nayak0Pratyusha Gudapati1Swapnil Tripathi2Jasmita Dass3Mukul Aggarwal4Pradeep Kumar5a:1:{s:5:"en_US";s:39:"All India Institute of Medical Sciences";}All India Institute of Medical SciencesAll India Institute of Medical SciencesAll India Institute of Medical SciencesAll India Institute of Medical SciencesAll India Institute of Medical Sciences Autoimmune lymphoproliferative syndrome (ALPS) is a disease characterized by dysfunction of the T lymphocyte apoptotic pathways, mostly due to dysfunctional FAS mediated signaling. However few cases can also occur independent of FAS pathway alteration. ALPS is characterized by various immuno-hematological manifestations. Monogenic lupus is an evolving entity, which describes the etiologic role of single gene modulation in systemic lupus erythematosus. In this manuscript, we describe a case of probable ALPS with monogenic lupus caused by a novel mutation in the KRAS gene. https://www.mjhid.org/mjhid/article/view/5571autoimmune lymphoprolifearive syndromemonogenic lupusKRASRAS associated leukoproliferative disorder |
spellingShingle | Amiya Nayak Pratyusha Gudapati Swapnil Tripathi Jasmita Dass Mukul Aggarwal Pradeep Kumar Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter Mediterranean Journal of Hematology and Infectious Diseases autoimmune lymphoprolifearive syndrome monogenic lupus KRAS RAS associated leukoproliferative disorder |
title | Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter |
title_full | Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter |
title_fullStr | Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter |
title_full_unstemmed | Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter |
title_short | Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter |
title_sort | probable autoimmune lymphoproliferative syndrome with monogenic lupus due to kras mutation a rare encounter |
topic | autoimmune lymphoprolifearive syndrome monogenic lupus KRAS RAS associated leukoproliferative disorder |
url | https://www.mjhid.org/mjhid/article/view/5571 |
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